Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 10 | 2008 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 10 | 2008 | 2019 | |||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.060 | 0.833 | 6 | 2009 | 2016 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.060 | 0.667 | 6 | 2009 | 2016 | |||
|
6 | 0.827 | 0.120 | 5 | 151028379 | 3 prime UTR variant | G/A;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 5 | 151021735 | non coding transcript exon variant | T/C | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.882 | 0.040 | 5 | 151022235 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.160 | 5 | 151020526 | 5 prime UTR variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.020 | 0.500 | 2 | 2011 | 2013 | |||||
|
7 | 0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.807 | 0.280 | 16 | 78432540 | missense variant | C/G | snv | 7.1E-02 | 7.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.763 | 0.280 | 12 | 57768302 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
15 | 0.708 | 0.360 | 11 | 14892029 | synonymous variant | G/A | snv | 0.41 | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
11 | 0.776 | 0.200 | 11 | 108272729 | missense variant | C/A;G | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
22 | 0.689 | 0.400 | 11 | 108223106 | 5 prime UTR variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.752 | 0.240 | 14 | 81144239 | missense variant | G/C | snv | 0.90 | 0.91 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 7 | 45921946 | upstream gene variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.160 | 20 | 54173204 | intron variant | C/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.763 | 0.200 | 20 | 54169680 | synonymous variant | G/A | snv | 0.49 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
14 | 0.724 | 0.440 | 12 | 57764205 | intron variant | A/G | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.763 | 0.240 | 20 | 54156202 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |